Canonical Allele Identifier: CA794914330
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs955563168
gnomAD v3: 4-41745990-T-TGCCGCC
gnomAD v4: 4-41745990-T-TGCCGCC
MyVariant Identifiers: chr4:g.41748007_41748008insGCCGCC (hg19) chr4:g.41745990_41745991insGCCGCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745999_41746004dup , CM000666.2:g.41745999_41746004dup GRCh38
NC_000004.11:g.41748016_41748021dup , CM000666.1:g.41748016_41748021dup GRCh37
NC_000004.10:g.41442773_41442778dup NCBI36
NG_008243.1:g.7975_7980dup , LRG_513:g.7975_7980dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.756_761dup MANE Select ENSP00000226382.2:p.Ala254_Ala255insAlaAla
ENST00000226382.3:c.756_761dup ENSP00000226382.2:p.Ala254_Ala255insAlaAla
NM_003924.3:c.756_761dup , LRG_513t1:c.756_761dup NP_003915.2:p.Ala254_Ala255insAlaAla
NM_003924.4:c.756_761dup MANE Select NP_003915.2:p.Ala254_Ala255insAlaAla
Search 100 bp 5'
Search 100 bp 3'